ClinVar Miner

List of variants studied for adrenal gland disease by Counsyl

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 757
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HGVS dbSNP
NM_000033.3(ABCD1):c.1415_1416delAG (p.Gln472Argfs) rs387906494
NM_000244.3(MEN1):c.1326dup (p.Thr443Hisfs) rs1555164184
NM_000244.3(MEN1):c.526C>T (p.Arg176Trp) rs143329068
NM_000244.3(MEN1):c.670-5dupC rs772016629
NM_000286.2(PEX12):c.1009C>T (p.Gln337Ter) rs760739894
NM_000286.2(PEX12):c.1023delC (p.Thr342Glnfs) rs1555549723
NM_000286.2(PEX12):c.1047_1049delACA (p.Gln349del) rs267608184
NM_000286.2(PEX12):c.1070_1071delCT (p.Pro357Argfs) rs1555549722
NM_000286.2(PEX12):c.126+1G>T rs144259891
NM_000286.2(PEX12):c.126+2T>A rs1555549902
NM_000286.2(PEX12):c.182_184dup (p.Glu61_Ile62insLys) rs1412916235
NM_000286.2(PEX12):c.18_41del24 (p.His7_Ala14del) rs1555549917
NM_000286.2(PEX12):c.190_194del5 (p.Thr64Alafs) rs1214971073
NM_000286.2(PEX12):c.1_2delAT (p.Met1Glyfs) rs1555549923
NM_000286.2(PEX12):c.204_206delTCT (p.Leu70del) rs61752098
NM_000286.2(PEX12):c.211C>T (p.Gln71Ter) rs767447750
NM_000286.2(PEX12):c.222T>A (p.Tyr74Ter) rs765404768
NM_000286.2(PEX12):c.223_224delCT (p.Leu75Valfs) rs1555549876
NM_000286.2(PEX12):c.268_271delAAGA (p.Lys90Glufs) rs61752100
NM_000286.2(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000286.2(PEX12):c.349A>G (p.Ile117Val) rs767207001
NM_000286.2(PEX12):c.353T>C (p.Met118Thr) rs879075660
NM_000286.2(PEX12):c.368_370delTTC (p.Leu123del) rs751058068
NM_000286.2(PEX12):c.392_400del9 (p.Glu131_Leu133del) rs1458853023
NM_000286.2(PEX12):c.429_431delTTCinsGAA (p.Tyr143Ter) rs1555549862
NM_000286.2(PEX12):c.460C>T (p.Arg154Ter) rs1555549855
NM_000286.2(PEX12):c.49C>T (p.Gln17Ter) rs888633730
NM_000286.2(PEX12):c.533_535delAAC (p.Gln178del) rs61752102
NM_000286.2(PEX12):c.538C>T (p.Arg180Ter) rs61752103
NM_000286.2(PEX12):c.604C>T (p.Arg202Ter) rs61752105
NM_000286.2(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.2(PEX12):c.644delC (p.Pro215Glnfs) rs1199283977
NM_000286.2(PEX12):c.664C>T (p.Gln222Ter) rs1555549841
NM_000286.2(PEX12):c.680+1G>A rs904972651
NM_000286.2(PEX12):c.681-2A>C rs187526749
NM_000286.2(PEX12):c.684_687delTAGT (p.Ser229Argfs) rs62642859
NM_000286.2(PEX12):c.687_690delTGAG (p.Ser229Argfs) rs1555549769
NM_000286.2(PEX12):c.69_76dup (p.Gln26Argfs) rs1238451790
NM_000286.2(PEX12):c.730_733dupGCCT (p.Leu245Cysfs) rs61752107
NM_000286.2(PEX12):c.744dup (p.Thr249Tyrfs) rs61752108
NM_000286.2(PEX12):c.771delC (p.Leu258Cysfs) rs1555549754
NM_000286.2(PEX12):c.781delC (p.Asp262Thrfs) rs754193088
NM_000286.2(PEX12):c.785_787delACT (p.Asp262_Trp263delinsGly) rs759584047
NM_000286.2(PEX12):c.789G>A (p.Trp263Ter) rs747099919
NM_000286.2(PEX12):c.865_870del6 (p.Asp289_Tyr290del) rs1366848752
NM_000286.2(PEX12):c.888_889delCT (p.Leu297Thrfs) rs398123301
NM_000286.2(PEX12):c.88_89delAT (p.Met30Aspfs) rs1555549909
NM_000286.2(PEX12):c.894delC (p.Met300Terfs) rs398123302
NM_000286.2(PEX12):c.949C>T (p.Leu317Phe) rs61752112
NM_000286.2(PEX12):c.961_964delGGCT (p.Gly321Metfs) rs749650201
NM_000286.2(PEX12):c.978C>A (p.Tyr326Ter) rs941358133
NM_000286.2(PEX12):c.987_988delGT (p.Phe330Serfs) rs764657253
NM_000286.3(PEX12):c.-26G>A rs727504080
NM_000287.3(PEX6):c.1046+1G>A rs1554127968
NM_000287.3(PEX6):c.1130+2T>C rs1416001981
NM_000287.3(PEX6):c.1234-1G>T rs1554127533
NM_000287.3(PEX6):c.1238G>T (p.Gly413Val) rs1554127531
NM_000287.3(PEX6):c.1314_1321delGGAGGCCT (p.Glu439Glyfs) rs267608216
NM_000287.3(PEX6):c.133G>T (p.Glu45Ter) rs1356280167
NM_000287.3(PEX6):c.133_147dup (p.Gly49_Pro50insGluSerProAlaGly) rs1421584986
NM_000287.3(PEX6):c.1368-2delA rs1554127415
NM_000287.3(PEX6):c.1446_1448delTGC (p.Ala483del) rs1554127389
NM_000287.3(PEX6):c.1479+2delT rs1554127383
NM_000287.3(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.3(PEX6):c.1947delG (p.Ile650Serfs) rs267608227
NM_000287.3(PEX6):c.1962-1G>A rs267608229
NM_000287.3(PEX6):c.202_219del18 (p.Gly68_Gln73del) rs1162020526
NM_000287.3(PEX6):c.2082delT (p.Gly695Glufs) rs766483138
NM_000287.3(PEX6):c.2225T>C (p.Leu742Pro) rs267608235
NM_000287.3(PEX6):c.2356C>T (p.Arg786Trp) rs267608239
NM_000287.3(PEX6):c.2362+1G>A rs1443107232
NM_000287.3(PEX6):c.2362G>A (p.Val788Met) rs267608240
NM_000287.3(PEX6):c.2435G>A (p.Arg812Gln) rs61753229
NM_000287.3(PEX6):c.2439dup (p.Arg814Alafs) rs1554126955
NM_000287.3(PEX6):c.2440C>T (p.Arg814Ter) rs267608241
NM_000287.3(PEX6):c.2472-2A>G rs267608242
NM_000287.3(PEX6):c.254_259dup (p.Leu86_Gly87insAlaLeu) rs1554128546
NM_000287.3(PEX6):c.2626C>T (p.Arg876Trp) rs267608246
NM_000287.3(PEX6):c.2692delC (p.Leu898Trpfs) rs1554126798
NM_000287.3(PEX6):c.2730G>A (p.Thr910=) rs774721609
NM_000287.3(PEX6):c.273G>A (p.Trp91Ter) rs1010184002
NM_000287.3(PEX6):c.275_280dup (p.Arg93_Ala94insValArg) rs61752142
NM_000287.3(PEX6):c.2764_2765delAT (p.Met922Aspfs) rs1554126781
NM_000287.3(PEX6):c.2806+1G>A rs751900826
NM_000287.3(PEX6):c.295C>T (p.Arg99Trp) rs772383329
NM_000287.3(PEX6):c.2T>G (p.Met1Arg) rs1554128597
NM_000287.3(PEX6):c.311delG (p.Gly104Valfs) rs61753209
NM_000287.3(PEX6):c.35T>C (p.Phe12Ser) rs61752139
NM_000287.3(PEX6):c.385_388delGAGA (p.Glu129Profs) rs1554128501
NM_000287.3(PEX6):c.406delCinsAT (p.Pro136Ilefs) rs1554128488
NM_000287.3(PEX6):c.42_43dup (p.Glu15Alafs) rs1554128586
NM_000287.3(PEX6):c.462delG (p.Leu155Trpfs) rs1554128476
NM_000287.3(PEX6):c.488G>C (p.Arg163Pro) rs778791031
NM_000287.3(PEX6):c.506_507delAG (p.Glu169Valfs) rs1554128461
NM_000287.3(PEX6):c.510dup (p.Gly171Trpfs) rs1491384052
NM_000287.3(PEX6):c.517delA (p.Ser173Alafs) rs61753212
NM_000287.3(PEX6):c.544_546delGTG (p.Val182del) rs1554128449
NM_000287.3(PEX6):c.551_553delCCT (p.Ser184del) rs1554128446
NM_000287.3(PEX6):c.654C>G (p.Phe218Leu) rs886037779
NM_000287.3(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000287.3(PEX6):c.718G>A (p.Ala240Thr) rs886061412
NM_000287.3(PEX6):c.802_815del14 (p.Asp268Cysfs) rs63749004
NM_000287.3(PEX6):c.821C>T (p.Pro274Leu) rs61753219
NM_000287.4(PEX6):c.1841del (p.Leu614Argfs) rs863225083
NM_000318.2(PEX2):c.-17-2A>G rs1289852067
NM_000318.2(PEX2):c.304C>T (p.Gln102Ter) rs200065382
NM_000318.2(PEX2):c.339_345delCAGGTGG (p.Arg114Terfs) rs764771123
NM_000318.2(PEX2):c.352_354delGAA (p.Glu118del) rs1554584507
NM_000318.2(PEX2):c.354_355delAC (p.Arg119Metfs) rs1554584505
NM_000318.2(PEX2):c.355C>T (p.Arg119Ter) rs61752123
NM_000318.2(PEX2):c.373C>T (p.Arg125Ter) rs61752124
NM_000318.2(PEX2):c.472delC (p.Leu158Phefs) rs1554584487
NM_000318.2(PEX2):c.502_503delGA (p.Glu168Thrfs) rs1554584474
NM_000318.2(PEX2):c.701_706del6 (p.Asp234_Thr236delinsAla) rs1554584423
NM_000318.2(PEX2):c.782A>G (p.His261Arg) rs749956542
NM_000318.2(PEX2):c.834_838del5 (p.Phe278Leufs) rs267608188
NM_000318.2(PEX2):c.857_859delAAG (p.Glu286del) rs1460738027
NM_000318.2(PEX2):c.884C>G (p.Ser295Ter) rs1554584377
NM_000318.2(PEX2):c.916T>C (p.Ter306Gln) rs1554584372
NM_000349.2(STAR):c.135delT (p.Ser46Alafs) rs193922393
NM_000349.2(STAR):c.149_157del9 (p.Asn50_Val52del) rs1554503018
NM_000349.2(STAR):c.178+1G>C rs1554503011
NM_000349.2(STAR):c.179-2A>G rs1554502986
NM_000349.2(STAR):c.229C>T (p.Gln77Ter) rs781281145
NM_000349.2(STAR):c.292_294delAAG (p.Lys98del) rs146872295
NM_000349.2(STAR):c.298_299delAG (p.Gln101Alafs) rs765904696
NM_000349.2(STAR):c.466-11T>A rs1053284504
NM_000349.2(STAR):c.505G>A (p.Glu169Lys) rs747169620
NM_000349.2(STAR):c.544C>T (p.Arg182Cys) rs369232492
NM_000349.2(STAR):c.545G>A (p.Arg182His) rs104894086
NM_000349.2(STAR):c.559G>A (p.Val187Met) rs104894089
NM_000349.2(STAR):c.562C>T (p.Arg188Cys) rs104894090
NM_000349.2(STAR):c.563G>A (p.Arg188His) rs61736315
NM_000349.2(STAR):c.574C>T (p.Arg192Cys) rs752311616
NM_000349.2(STAR):c.577C>T (p.Arg193Ter) rs387907235
NM_000349.2(STAR):c.629_630delCT (p.Pro210Argfs) rs771895449
NM_000349.2(STAR):c.64+1G>T rs765968701
NM_000349.2(STAR):c.64+2T>C rs1298369560
NM_000349.2(STAR):c.651-1G>C rs749626865
NM_000349.2(STAR):c.677delT (p.Val226Glyfs) rs1554502732
NM_000349.2(STAR):c.695delG (p.Gly232Glufs) rs757367795
NM_000349.2(STAR):c.714delA (p.Lys238Asnfs) rs1417088430
NM_000349.2(STAR):c.716_732del17 (p.Leu239Hisfs) rs1554502725
NM_000349.2(STAR):c.745-1_757del14 rs1554502668
NM_000349.2(STAR):c.772C>T (p.Gln258Ter) rs104894085
NM_000349.2(STAR):c.779T>C (p.Leu260Pro) rs551783234
NM_000349.2(STAR):c.801dup (p.Ala268Cysfs) rs1554502663
NM_000349.2(STAR):c.811delC (p.Leu271Cysfs) rs1350908961
NM_000349.2(STAR):c.814C>T (p.Arg272Cys) rs751759820
NM_000383.3(AIRE):c.-24_1del25 rs1555871766
NM_000383.3(AIRE):c.-653_-649dup rs1555871683
NM_000383.3(AIRE):c.-656_-655insCCC rs1016179869
NM_000383.3(AIRE):c.1002delC (p.Trp335Glyfs) rs769305771
NM_000383.3(AIRE):c.1054_1068del15 (p.Ala352_Arg356del) rs1481102287
NM_000383.3(AIRE):c.1054_1068dup (p.Arg356_Pro357insAlaGluGluProArg) rs1481102287
NM_000383.3(AIRE):c.1065_1079del15 (p.Arg356_Pro360del) rs1555872876
NM_000383.3(AIRE):c.1066dup (p.Arg356Profs) rs1555872879
NM_000383.3(AIRE):c.1078_1089del12 (p.Pro360_Glu363del) rs1555872881
NM_000383.3(AIRE):c.1084delG (p.Val362Trpfs) rs1057517254
NM_000383.3(AIRE):c.1095+1G>A rs1022025101
NM_000383.3(AIRE):c.1095+3_1095+44del rs1037154559
NM_000383.3(AIRE):c.1096-1G>A rs780906602
NM_000383.3(AIRE):c.1116_1117delGG (p.Ala373Glyfs) rs1057516411
NM_000383.3(AIRE):c.1163_1164insA (p.Met388Ilefs) rs386833672
NM_000383.3(AIRE):c.1193delC (p.Pro398Argfs) rs1555872988
NM_000383.3(AIRE):c.1209_1213dup (p.Pro405Glnfs) rs1555872997
NM_000383.3(AIRE):c.1249dupC (p.Leu417Profs) rs786204567
NM_000383.3(AIRE):c.1278+1delG rs996389327
NM_000383.3(AIRE):c.1279-2A>G rs1555873087
NM_000383.3(AIRE):c.1336T>G (p.Cys446Gly) rs1555873106
NM_000383.3(AIRE):c.1450G>A (p.Val484Met) rs367966318
NM_000383.3(AIRE):c.1470dup (p.Ser491Glnfs) rs1555873248
NM_000383.3(AIRE):c.1480_1483delCGCC (p.Arg494Trpfs) rs1057517072
NM_000383.3(AIRE):c.1566+2T>A rs1057516985
NM_000383.3(AIRE):c.1566+2dupT rs1057516811
NM_000383.3(AIRE):c.1567-18C>T rs372108131
NM_000383.3(AIRE):c.1567-2A>G rs1555873650
NM_000383.3(AIRE):c.157G>T (p.Glu53Ter) rs1057516272
NM_000383.3(AIRE):c.1588C>T (p.Gln530Ter) rs1472708073
NM_000383.3(AIRE):c.1612delC (p.Arg538Valfs) rs1555873662
NM_000383.3(AIRE):c.1616C>T (p.Pro539Leu) rs179363889
NM_000383.3(AIRE):c.1638A>T (p.Ter546Cys) rs386833673
NM_000383.3(AIRE):c.173C>A (p.Ala58Asp) rs747941115
NM_000383.3(AIRE):c.1A>G (p.Met1Val) rs121434258
NM_000383.3(AIRE):c.1A>T (p.Met1Leu) rs121434258
NM_000383.3(AIRE):c.20_24del5 (p.Leu7Profs) rs1555871777
NM_000383.3(AIRE):c.22C>T (p.Arg8Cys) rs1231469574
NM_000383.3(AIRE):c.232T>C (p.Trp78Arg) rs179363880
NM_000383.3(AIRE):c.233G>A (p.Trp78Ter) rs1057516499
NM_000383.3(AIRE):c.254A>G (p.Tyr85Cys) rs179363882
NM_000383.3(AIRE):c.255C>A (p.Tyr85Ter) rs1057516225
NM_000383.3(AIRE):c.260delT (p.Leu87Argfs) rs1057517428
NM_000383.3(AIRE):c.274C>T (p.Arg92Trp) rs140630532
NM_000383.3(AIRE):c.319_321delAGCinsTG (p.Ser107Cysfs) rs1555871928
NM_000383.3(AIRE):c.328delC (p.Arg110Glyfs) rs1162316051
NM_000383.3(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_000383.3(AIRE):c.43C>T (p.Arg15Cys) rs179363875
NM_000383.3(AIRE):c.457_458delAGinsC (p.Ser153Profs) rs1057516314
NM_000383.3(AIRE):c.463+2T>C rs786204478
NM_000383.3(AIRE):c.464-2A>T rs1032171597
NM_000383.3(AIRE):c.512_516dup (p.Gln173Serfs) rs1555872060
NM_000383.3(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.3(AIRE):c.55G>A (p.Ala19Thr) rs1555871798
NM_000383.3(AIRE):c.62C>T (p.Ala21Val) rs179363886
NM_000383.3(AIRE):c.652+1G>T rs199612115
NM_000383.3(AIRE):c.652+2T>C rs1555872272
NM_000383.3(AIRE):c.755C>T (p.Pro252Leu) rs34397615
NM_000383.3(AIRE):c.769C>T (p.Arg257Ter) rs121434254
NM_000383.3(AIRE):c.798+1G>A rs138489664
NM_000383.3(AIRE):c.798+1G>C rs138489664
NM_000383.3(AIRE):c.798+1G>T rs138489664
NM_000383.3(AIRE):c.809_810delAG (p.Glu270Glyfs) rs1057517268
NM_000383.3(AIRE):c.880-451G>A rs267606153
NM_000383.3(AIRE):c.892G>A (p.Glu298Lys) rs763636007
NM_000383.3(AIRE):c.931delT (p.Cys311Valfs) rs1555872755
NM_000383.3(AIRE):c.967_979delCTGTCCCCTCCGC (p.Leu323Serfs) rs386833675
NM_000383.3(AIRE):c.977delC (p.Pro326Argfs) rs1057517011
NM_000466.2(PEX1):c.1074_1075delGA (p.Lys359Alafs) rs1057517488
NM_000466.2(PEX1):c.1076delA (p.Lys359Serfs) rs1057517465
NM_000466.2(PEX1):c.1108delA (p.Ile370Leufs) rs61750406
NM_000466.2(PEX1):c.1155delA (p.Val386Terfs) rs1057517520
NM_000466.2(PEX1):c.130-1G>C rs1028247729
NM_000466.2(PEX1):c.1522dupG (p.Glu508Glyfs) rs1057517463
NM_000466.2(PEX1):c.1527delA (p.Glu510Lysfs) rs1057517497
NM_000466.2(PEX1):c.1528G>T (p.Glu510Ter) rs754983126
NM_000466.2(PEX1):c.1587+1G>A rs1057517469
NM_000466.2(PEX1):c.1670+1G>T rs1057517490
NM_000466.2(PEX1):c.1765G>T (p.Gly589Ter) rs1057517489
NM_000466.2(PEX1):c.1842delA (p.Glu615Lysfs) rs267608176
NM_000466.2(PEX1):c.1908delG (p.Arg636Serfs) rs1057517478
NM_000466.2(PEX1):c.1921C>T (p.Gln641Ter) rs1057517464
NM_000466.2(PEX1):c.1926_1927delAAinsC (p.Lys642Asnfs) rs1057517529
NM_000466.2(PEX1):c.1964_1970dup (p.Val658Alafs) rs1057517486
NM_000466.2(PEX1):c.1A>T (p.Met1Leu) rs1057517501
NM_000466.2(PEX1):c.2034_2035delCA (p.His678Glnfs) rs61750412
NM_000466.2(PEX1):c.2137C>T (p.Gln713Ter) rs1057517468
NM_000466.2(PEX1):c.2162_2166del5 (p.Leu721Cysfs) rs1057517499
NM_000466.2(PEX1):c.2617C>T (p.Gln873Ter) rs1057517470
NM_000466.2(PEX1):c.2686C>T (p.Arg896Ter) rs1057517485
NM_000466.2(PEX1):c.2723delC (p.Pro908Glnfs) rs1057517503
NM_000466.2(PEX1):c.2798dupA (p.Pro934Alafs) rs1057517484
NM_000466.2(PEX1):c.2859dupT (p.Thr954Tyrfs) rs1057517472
NM_000466.2(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.2(PEX1):c.2922delA (p.Leu974Phefs) rs762324548
NM_000466.2(PEX1):c.2927-2A>G rs1057517531
NM_000466.2(PEX1):c.2T>C (p.Met1Thr) rs766020928
NM_000466.2(PEX1):c.2T>G (p.Met1Arg) rs766020928
NM_000466.2(PEX1):c.3208-1G>A rs1057517518
NM_000466.2(PEX1):c.3237_3238delAA (p.Leu1081Valfs) rs1057517509
NM_000466.2(PEX1):c.3455_3456delCT (p.Ser1152Cysfs) rs759183382
NM_000466.2(PEX1):c.348G>A (p.Trp116Ter) rs1057517487
NM_000466.2(PEX1):c.3547G>T (p.Glu1183Ter) rs1057517480
NM_000466.2(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467
NM_000466.2(PEX1):c.358-1G>T rs1057517479
NM_000466.2(PEX1):c.358-2A>G rs1057517500
NM_000466.2(PEX1):c.431dupC (p.Val145Cysfs) rs1057517506
NM_000466.2(PEX1):c.547C>T (p.Arg183Ter) rs149806989
NM_000466.2(PEX1):c.734delT (p.Leu245Tyrfs) rs1057517522
NM_000466.2(PEX1):c.892_895dupTATA (p.Asn299Ilefs) rs1057517505
NM_000466.3(PEX1):c.1670+1G>A rs1057517490
NM_000497.3(CYP11B1):c.1021C>A (p.Arg341Ser) rs372115638
NM_000497.3(CYP11B1):c.1066C>T (p.Gln356Ter) rs146124466
NM_000497.3(CYP11B1):c.1112A>G (p.Glu371Gly) rs368944209
NM_000497.3(CYP11B1):c.1128C>A (p.Tyr376Ter) rs760880418
NM_000497.3(CYP11B1):c.1145T>G (p.Leu382Arg) rs1412048304
NM_000497.3(CYP11B1):c.1151G>A (p.Arg384Gln) rs764598023
NM_000497.3(CYP11B1):c.1157C>A (p.Ala386Glu) rs4541
NM_000497.3(CYP11B1):c.1159dup (p.Ser387Lysfs) rs1379392398
NM_000497.3(CYP11B1):c.1181delA (p.Asn394Thrfs) rs1256580853
NM_000497.3(CYP11B1):c.1205delT (p.Leu402Trpfs) rs1554652650
NM_000497.3(CYP11B1):c.1269T>G (p.Tyr423Ter) rs267606755
NM_000497.3(CYP11B1):c.1280G>A (p.Arg427His) rs754432887
NM_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938
NM_000497.3(CYP11B1):c.1343G>A (p.Arg448His) rs28934586
NM_000497.3(CYP11B1):c.1361G>A (p.Arg454His) rs367634557
NM_000497.3(CYP11B1):c.1398+2T>C rs577022490
NM_000497.3(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238
NM_000497.3(CYP11B1):c.147delG (p.Trp49Cysfs) rs748867146
NM_000497.3(CYP11B1):c.1486delC (p.Leu496Serfs) rs1554652528
NM_000497.3(CYP11B1):c.168G>A (p.Trp56Ter) rs1383321200
NM_000497.3(CYP11B1):c.187G>C (p.Asp63His) rs5282
NM_000497.3(CYP11B1):c.217C>T (p.Gln73Ter) rs1554653675
NM_000497.3(CYP11B1):c.235T>A (p.Phe79Ile) rs1489638195
NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.3(CYP11B1):c.304C>T (p.Gln102Ter) rs1554653551
NM_000497.3(CYP11B1):c.317_344del28 (p.Leu106Profs) rs764418169
NM_000497.3(CYP11B1):c.346T>G (p.Trp116Gly) rs772733691
NM_000497.3(CYP11B1):c.372delG (p.His125Thrfs) rs1554653520
NM_000497.3(CYP11B1):c.374A>G (p.His125Arg) rs757389720
NM_000497.3(CYP11B1):c.385G>A (p.Val129Met) rs377423817
NM_000497.3(CYP11B1):c.395+1G>C rs1554653514
NM_000497.3(CYP11B1):c.412C>T (p.Arg138Cys) rs764251434
NM_000497.3(CYP11B1):c.422G>A (p.Arg141Gln) rs267601810
NM_000497.3(CYP11B1):c.427C>T (p.Arg143Trp) rs140336749
NM_000497.3(CYP11B1):c.45G>A (p.Trp15Ter) rs1554653714
NM_000497.3(CYP11B1):c.473T>C (p.Leu158Pro) rs1554653191
NM_000497.3(CYP11B1):c.494C>A (p.Ala165Asp) rs1554653185
NM_000497.3(CYP11B1):c.523_525delAAG (p.Lys175del) rs535861895
NM_000497.3(CYP11B1):c.55C>T (p.Gln19Ter) rs763195324
NM_000497.3(CYP11B1):c.595+1G>A rs1264073726
NM_000497.3(CYP11B1):c.632_640del9 (p.Leu211_Gly213del) rs1554653044
NM_000497.3(CYP11B1):c.740G>A (p.Trp247Ter) rs866430018
NM_000497.3(CYP11B1):c.779G>A (p.Trp260Ter) rs1554652999
NM_000497.3(CYP11B1):c.780G>A (p.Trp260Ter) rs1554652998
NM_000497.3(CYP11B1):c.799+1G>C rs1554652990
NM_000497.3(CYP11B1):c.799+5G>C rs193922542
NM_000497.3(CYP11B1):c.841_842ins11 (p.?) rs775128501
NM_000497.3(CYP11B1):c.896T>C (p.Leu299Pro) rs387907573
NM_000497.3(CYP11B1):c.917C>T (p.Ala306Val) rs387907572
NM_000497.3(CYP11B1):c.953C>G (p.Thr318Arg) rs104894061
NM_000497.3(CYP11B1):c.954G>A (p.Thr318=) rs753774484
NM_000497.3(CYP11B1):c.955-15_955-1del15 rs1554652823
NM_000497.3(CYP11B1):c.955-1G>A rs1456715954
NM_000497.3(CYP11B1):c.992C>T (p.Ala331Val) rs1326688256
NM_000500.7(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409
NM_000500.7(CYP21A2):c.293-13C>G rs6467
NM_000500.7(CYP21A2):c.332_339delGAGACTAC (p.Gly111Valfs) rs387906510
NM_000500.7(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000500.7(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.7(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898
NM_000500.7:c.*28697405C>T
NM_000500.7:c.*28697972C>G
NM_000500.7:c.*28698024_*28698031del8
NM_000500.7:c.*28698317T>A
NM_000500.7:c.*28699001G>T
NM_000500.7:c.*28699080dupT
NM_000500.7:c.*28699312C>T
NM_000500.7:c.*28699426C>T
NM_000500.9(CYP21A2):c.710_719delTCGTGGAGATinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) rs786204728
NM_000546.5(TP53):c.*1175A>C rs78378222
NM_000546.5(TP53):c.1000G>C (p.Gly334Arg) rs730882028
NM_000546.5(TP53):c.1010G>A (p.Arg337His) rs121912664
NM_000546.5(TP53):c.1023C>T (p.Phe341=) rs864622369
NM_000546.5(TP53):c.1060C>A (p.Gln354Lys) rs755394212
NM_000546.5(TP53):c.1079G>C (p.Gly360Ala) rs35993958
NM_000546.5(TP53):c.107C>A (p.Pro36Gln) rs587781866
NM_000546.5(TP53):c.1135C>A (p.Arg379Ser) rs749061599
NM_000546.5(TP53):c.1136G>A (p.Arg379His) rs863224682
NM_000546.5(TP53):c.1149C>T (p.Leu383=) rs373710656
NM_000546.5(TP53):c.1151T>C (p.Met384Thr) rs1060501196
NM_000546.5(TP53):c.11C>T (p.Pro4Leu) rs878854064
NM_000546.5(TP53):c.145G>C (p.Asp49His) rs587780728
NM_000546.5(TP53):c.149T>C (p.Ile50Thr) rs370502517
NM_000546.5(TP53):c.171C>A (p.Asp57Glu) rs587782776
NM_000546.5(TP53):c.173C>G (p.Pro58Arg) rs144386518
NM_000546.5(TP53):c.180A>C (p.Pro60=) rs749289195
NM_000546.5(TP53):c.188C>T (p.Ala63Val) rs372201428
NM_000546.5(TP53):c.214C>G (p.Pro72Ala) rs587782769
NM_000546.5(TP53):c.214_215delCCinsTG (p.Pro72Cys) rs730882014
NM_000546.5(TP53):c.222C>T (p.Ala74=) rs786201577
NM_000546.5(TP53):c.234A>G (p.Ala78=) rs375099397
NM_000546.5(TP53):c.248C>T (p.Ala83Val) rs201717599
NM_000546.5(TP53):c.249G>A (p.Ala83=) rs55754907
NM_000546.5(TP53):c.250G>A (p.Ala84Thr) rs587781307
NM_000546.5(TP53):c.255T>C (p.Pro85=) rs775515332
NM_000546.5(TP53):c.286_288delTCT (p.Ser96del) rs878854068
NM_000546.5(TP53):c.28G>A (p.Val10Ile) rs535274413
NM_000546.5(TP53):c.30C>T (p.Val10=) rs568171603
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578
NM_000546.5(TP53):c.31G>A (p.Glu11Lys) rs201382018
NM_000546.5(TP53):c.329G>A (p.Arg110His) rs11540654
NM_000546.5(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_000546.5(TP53):c.375+17G>A rs765179201
NM_000546.5(TP53):c.376-18dupT rs756417643
NM_000546.5(TP53):c.38dup (p.Leu14Serfs) rs1555527002
NM_000546.5(TP53):c.399G>A (p.Met133Ile) rs1064795139
NM_000546.5(TP53):c.408A>G (p.Gln136=) rs758781593
NM_000546.5(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.5(TP53):c.461G>A (p.Gly154Asp) rs762846821
NM_000546.5(TP53):c.466C>T (p.Arg156Cys) rs563378859
NM_000546.5(TP53):c.473G>A (p.Arg158His) rs587782144
NM_000546.5(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.5(TP53):c.509C>T (p.Thr170Met) rs779000871
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_000546.5(TP53):c.542G>A (p.Arg181His) rs397514495
NM_000546.5(TP53):c.554G>A (p.Ser185Asn) rs150607408
NM_000546.5(TP53):c.566C>T (p.Ala189Val) rs121912665
NM_000546.5(TP53):c.572C>G (p.Pro191Arg) rs587778718
NM_000546.5(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.5(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.5(TP53):c.639A>G (p.Arg213=) rs1800372
NM_000546.5(TP53):c.642T>G (p.His214Gln) rs587781386
NM_000546.5(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.5(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.5(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_000546.5(TP53):c.665C>T (p.Pro222Leu) rs146340390
NM_000546.5(TP53):c.666G>T (p.Pro222=) rs72661118
NM_000546.5(TP53):c.672+15T>C rs140756213
NM_000546.5(TP53):c.672+18G>C rs199578278
NM_000546.5(TP53):c.673-36G>C rs17880604
NM_000546.5(TP53):c.673-37C>T rs374907737
NM_000546.5(TP53):c.6G>A (p.Glu2=) rs143458271
NM_000546.5(TP53):c.704A>G (p.Asn235Ser) rs144340710
NM_000546.5(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_000546.5(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.74+14T>C rs184743157
NM_000546.5(TP53):c.74+9A>C rs1057517593
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.768A>G (p.Thr256=) rs786203563
NM_000546.5(TP53):c.776A>T (p.Asp259Val) rs745425759
NM_000546.5(TP53):c.782+12C>T rs17881780
NM_000546.5(TP53):c.783-13C>G rs1555525373
NM_000546.5(TP53):c.787A>G (p.Asn263Asp) rs72661119
NM_000546.5(TP53):c.794T>C (p.Leu265Pro) rs879253942
NM_000546.5(TP53):c.800G>A (p.Arg267Gln) rs587780075
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.877G>T (p.Gly293Trp) rs587780076
NM_000546.5(TP53):c.885T>C (p.Pro295=) rs200073907
NM_000546.5(TP53):c.892G>A (p.Glu298Lys) rs201744589
NM_000546.5(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000546.5(TP53):c.935C>G (p.Thr312Ser) rs145151284
NM_000546.5(TP53):c.97-15T>C rs1555526843
NM_000546.5(TP53):c.97-28T>A rs200989844
NM_000546.5(TP53):c.97-9C>T rs202217267
NM_000546.5(TP53):c.993+12T>C rs1800899
NM_000546.5(TP53):c.993+13G>C rs369599972
NM_000546.5(TP53):c.993+223T>G rs3021068
NM_000546.5(TP53):c.993+227A>C rs764562217
NM_000546.5(TP53):c.993+234G>A rs17883348
NM_000546.5(TP53):c.993+244G>A rs576532147
NM_000546.5(TP53):c.993+284C>T rs554738122
NM_000546.5(TP53):c.993+290T>C rs1642789
NM_000546.5(TP53):c.993+312_993+314delCGT rs1555524872
NM_000546.5(TP53):c.993+326_993+341del16 rs730882013
NM_000546.5(TP53):c.994-17C>T rs368691910
NM_000546.5(TP53):c.998G>A (p.Arg333His) rs573154688
NM_000551.3(VHL):c.*7C>G rs778005138
NM_000551.3(VHL):c.104C>A (p.Ala35Asp) rs587780536
NM_000551.3(VHL):c.114C>T (p.Ser38=) rs417164
NM_000551.3(VHL):c.119C>T (p.Pro40Leu) rs200343185
NM_000551.3(VHL):c.135G>A (p.Pro45=) rs773519476
NM_000551.3(VHL):c.14C>T (p.Ala5Val) rs755333116
NM_000551.3(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.3(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000551.3(VHL):c.167C>G (p.Ala56Gly) rs752980085
NM_000551.3(VHL):c.172C>T (p.Arg58Trp) rs757781272
NM_000551.3(VHL):c.181C>T (p.Pro61Ser) rs113612866
NM_000551.3(VHL):c.1A>G (p.Met1Val) rs1060503557
NM_000551.3(VHL):c.1A>T (p.Met1Leu) rs1060503557
NM_000551.3(VHL):c.233A>G (p.Asn78Ser) rs5030804
NM_000551.3(VHL):c.235C>T (p.Arg79Cys) rs200885420
NM_000551.3(VHL):c.246C>T (p.Arg82=) rs587780993
NM_000551.3(VHL):c.258C>G (p.Pro86=) rs781063331
NM_000551.3(VHL):c.25G>A (p.Asp9Asn) rs587780730
NM_000551.3(VHL):c.275A>T (p.Asp92Val) rs749091984
NM_000551.3(VHL):c.28G>T (p.Glu10Ter) rs1057519261
NM_000551.3(VHL):c.341-6C>T rs191201783
NM_000551.3(VHL):c.345C>T (p.His115=) rs864622646
NM_000551.3(VHL):c.375C>T (p.His125=) rs863224372
NM_000551.3(VHL):c.376G>A (p.Asp126Asn) rs104893831
NM_000551.3(VHL):c.3G>A (p.Met1Ile) rs578091032
NM_000551.3(VHL):c.3G>T (p.Met1Ile) rs578091032
NM_000551.3(VHL):c.416C>G (p.Ser139Cys) rs587780732
NM_000551.3(VHL):c.439A>G (p.Ile147Val) rs1057517560
NM_000551.3(VHL):c.449A>G (p.Asn150Ser) rs760184234
NM_000551.3(VHL):c.463+8C>T rs5030834
NM_000551.3(VHL):c.47A>C (p.Glu16Ala) rs864622379
NM_000551.3(VHL):c.541G>A (p.Val181Ile) rs878854127
NM_000551.3(VHL):c.544A>G (p.Arg182Gly) rs778205243
NM_000551.3(VHL):c.552C>T (p.Leu184=) rs779157605
NM_000551.3(VHL):c.554A>G (p.Tyr185Cys) rs561874453
NM_000551.3(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_000551.3(VHL):c.628C>T (p.Arg210Trp) rs774380450
NM_000551.3(VHL):c.629G>A (p.Arg210Gln) rs138780791
NM_000551.3(VHL):c.69C>A (p.Tyr23Ter) rs1553619313
NM_000551.3(VHL):c.71G>A (p.Gly24Asp) rs878854129
NM_000551.3(VHL):c.83_100dup18 (p.Ser33_Gly34insAspGlyGlyGluGluSer) rs1057517592
NM_000551.3(VHL):c.91G>T (p.Glu31Ter) rs1214275235
NM_003000.2(SDHB):c.112C>T (p.Arg38Cys) rs202119350
NM_003000.2(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.2(SDHB):c.287-1G>C rs397516833
NM_003000.2(SDHB):c.287-26A>G rs201397253
NM_003000.2(SDHB):c.32G>A (p.Arg11His) rs111430410
NM_003000.2(SDHB):c.352G>A (p.Asp118Asn) rs200021702
NM_003000.2(SDHB):c.418G>T (p.Val140Phe) rs267607032
NM_003000.2(SDHB):c.424-14_424-9dup rs1064794554
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003000.2(SDHB):c.642+17T>C rs200597595
NM_003000.2(SDHB):c.709C>T (p.Pro237Ser) rs186768244
NM_003000.2(SDHB):c.749C>T (p.Thr250Ile) rs1057517537
NM_003000.2(SDHB):c.765+13G>A rs115561881
NM_003000.2(SDHB):c.79C>G (p.Arg27Gly) rs74315369
NM_003001.3(SDHC):c.*20T>G rs587778662
NM_003001.3(SDHC):c.-38G>A rs112556972
NM_003001.3(SDHC):c.119G>A (p.Arg40Gln) rs772450693
NM_003001.3(SDHC):c.11T>C (p.Leu4Pro) rs774299337
NM_003001.3(SDHC):c.179+10G>A rs532455044
NM_003001.3(SDHC):c.197C>T (p.Ala66Val) rs760572684
NM_003001.3(SDHC):c.20+22G>C rs182261879
NM_003001.3(SDHC):c.405+23C>T rs373731336
NM_003001.3(SDHC):c.64C>T (p.Leu22Phe) rs1473438869
NM_004168.3(SDHA):c.*13T>C rs1042476
NM_004168.3(SDHA):c.-5C>T rs572126995
NM_004168.3(SDHA):c.-7A>C rs751633537
NM_004168.3(SDHA):c.1006G>T (p.Asp336Tyr) rs1553999038
NM_004168.3(SDHA):c.1055G>A (p.Arg352Gln) rs199844384
NM_004168.3(SDHA):c.1064+5G>A rs200021115
NM_004168.3(SDHA):c.109G>A (p.Val37Ile) rs758426529
NM_004168.3(SDHA):c.1196C>T (p.Pro399Leu) rs878854625
NM_004168.3(SDHA):c.1273G>A (p.Val425Met) rs201822097
NM_004168.3(SDHA):c.1274T>G (p.Val425Gly) rs200047573
NM_004168.3(SDHA):c.133G>A (p.Ala45Thr) rs140736646
NM_004168.3(SDHA):c.1346C>T (p.Ala449Val) rs201139275
NM_004168.3(SDHA):c.1360G>A (p.Ala454Thr) rs1057517550
NM_004168.3(SDHA):c.136A>G (p.Lys46Glu) rs144599870
NM_004168.3(SDHA):c.1414G>A (p.Glu472Lys) rs143798161
NM_004168.3(SDHA):c.1423T>C (p.Cys475Arg) rs781747137
NM_004168.3(SDHA):c.1432+16A>G rs753631065
NM_004168.3(SDHA):c.1432+20G>C rs200127852
NM_004168.3(SDHA):c.1432+7G>C rs760526397
NM_004168.3(SDHA):c.146A>G (p.Asp49Gly) rs80207011
NM_004168.3(SDHA):c.1534C>T (p.Arg512Ter) rs748089700
NM_004168.3(SDHA):c.1591G>A (p.Val531Met) rs371056571
NM_004168.3(SDHA):c.1652C>T (p.Thr551Met) rs181238392
NM_004168.3(SDHA):c.1661G>A (p.Arg554Gln) rs376391115
NM_004168.3(SDHA):c.1664-24delT rs534296796
NM_004168.3(SDHA):c.1724C>T (p.Ala575Val) rs750327309
NM_004168.3(SDHA):c.1753C>T (p.Arg585Trp) rs200397144
NM_004168.3(SDHA):c.1754G>A (p.Arg585Gln) rs752360961
NM_004168.3(SDHA):c.17G>A (p.Gly6Asp) rs187964306
NM_004168.3(SDHA):c.1919A>G (p.Glu640Gly) rs372480044
NM_004168.3(SDHA):c.1930G>A (p.Val644Met) rs3211483
NM_004168.3(SDHA):c.1951G>C (p.Glu651Gln) rs375396913
NM_004168.3(SDHA):c.1979C>G (p.Ala660Gly) rs191412461
NM_004168.3(SDHA):c.1A>T (p.Met1Leu) rs1061517
NM_004168.3(SDHA):c.210dup (p.Gly71Argfs) rs1553997340
NM_004168.3(SDHA):c.287C>T (p.Thr96Ile) rs377620054
NM_004168.3(SDHA):c.2T>C (p.Met1Thr) rs750380279
NM_004168.3(SDHA):c.313-19G>T rs185555941
NM_004168.3(SDHA):c.456+6G>T rs371735891
NM_004168.3(SDHA):c.456+9C>T rs200565489
NM_004168.3(SDHA):c.480T>G (p.Phe160Leu) rs1060503711
NM_004168.3(SDHA):c.513T>C (p.Arg171=) rs765157205
NM_004168.3(SDHA):c.622-8T>C rs370714378
NM_004168.3(SDHA):c.704T>C (p.Ile235Thr) rs144513891
NM_004168.3(SDHA):c.739A>G (p.Ile247Val) rs571292356
NM_004168.3(SDHA):c.757_758delGT (p.Val253Cysfs) rs1553998254
NM_004168.3(SDHA):c.770+12A>G rs201245536
NM_004168.3(SDHA):c.770+19_770+23del5 rs372913930
NM_004168.3(SDHA):c.818C>T (p.Thr273Ile) rs587781720
NM_004168.3(SDHA):c.826G>A (p.Gly276Ser) rs751008647
NM_004168.3(SDHA):c.830C>T (p.Thr277Met) rs367721665
NM_004168.3(SDHA):c.841A>G (p.Thr281Ala) rs772325115
NM_004168.3(SDHA):c.895+13G>A rs201461936
NM_004168.3(SDHA):c.914G>A (p.Cys305Tyr) rs878854638
NM_004168.3(SDHA):c.91C>T (p.Arg31Ter) rs142441643
NM_004168.3(SDHA):c.92G>A (p.Arg31Gln) rs752532780
NM_004168.3(SDHA):c.955A>G (p.Ile319Val) rs377509915
NM_004168.3(SDHA):c.970G>A (p.Glu324Lys) rs147014102
NM_004168.3(SDHA):c.996_998delTGTinsCAC (p.Val333Thr) rs1057517540
NM_006624.5(ZMYND11):c.117-4238T>A rs1057517548
NM_020630.4(RET):c.2080C>T (p.Arg694Trp) rs193922700
NM_020630.4(RET):c.2081G>A (p.Arg694Gln) rs141185224
NM_020630.4(RET):c.2410G>T (p.Val804Leu) rs79658334
NM_020630.4(RET):c.2452G>A (p.Glu818Lys) rs377767420
NM_020630.4(RET):c.2522C>T (p.Pro841Leu) rs149891333
NM_020630.4(RET):c.2543T>A (p.Met848Lys) rs201101792
NM_020630.4(RET):c.2982A>C (p.Lys994Asn) rs199718928
NM_020630.4(RET):c.3116C>T (p.Pro1039Leu) rs79853121
NM_020630.4(RET):c.509C>T (p.Thr170Ile) rs200547906
NM_020630.4(RET):c.539G>A (p.Arg180Gln) rs370736139
NM_020630.5(RET):c.1942G>A (p.Val648Ile) rs77711105
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020630.5(RET):c.2611G>A (p.Val871Ile) rs145170911
NM_020975.4(RET):c.1017G>A (p.Ser339=) rs369810881
NM_020975.4(RET):c.1018G>T (p.Val340Phe) rs367737920
NM_020975.4(RET):c.1063+9G>A rs765463636
NM_020975.4(RET):c.1095G>A (p.Ser365=) rs201992974
NM_020975.4(RET):c.1118C>T (p.Ala373Val) rs546866208
NM_020975.4(RET):c.1150C>G (p.Pro384Ala) rs536298339
NM_020975.4(RET):c.1182C>T (p.Asn394=) rs376465385
NM_020975.4(RET):c.1187C>T (p.Ser396Leu) rs781646869
NM_020975.4(RET):c.1188G>A (p.Ser396=) rs758510657
NM_020975.4(RET):c.1197G>A (p.Pro399=) rs148371113
NM_020975.4(RET):c.1264-4C>T rs587780806
NM_020975.4(RET):c.1264-5C>T rs9282835
NM_020975.4(RET):c.1336G>C (p.Gly446Arg) rs115423919
NM_020975.4(RET):c.1354C>A (p.Leu452Ile) rs151148041
NM_020975.4(RET):c.139G>A (p.Gly47Ser) rs529018971
NM_020975.4(RET):c.1437C>T (p.Ala479=) rs576806356
NM_020975.4(RET):c.1522+35C>T rs377130948
NM_020975.4(RET):c.1530C>T (p.Ala510=) rs553492964
NM_020975.4(RET):c.1531G>A (p.Glu511Lys) rs201553718
NM_020975.4(RET):c.1538C>T (p.Ala513Val) rs149238501
NM_020975.4(RET):c.1597G>A (p.Gly533Ser) rs75873440
NM_020975.4(RET):c.1648+24G>A rs1057517640
NM_020975.4(RET):c.1702G>A (p.Gly568Ser) rs140464432
NM_020975.4(RET):c.1724C>T (p.Thr575Ile) rs587780808
NM_020975.4(RET):c.1760-12G>A rs377767392
NM_020975.4(RET):c.1777G>A (p.Gly593Arg) rs878855059
NM_020975.4(RET):c.1826G>A (p.Cys609Tyr) rs77939446
NM_020975.4(RET):c.1853G>C (p.Cys618Ser) rs79781594
NM_020975.4(RET):c.1859G>T (p.Cys620Phe) rs77503355
NM_020975.4(RET):c.1878G>A (p.Gln626=) rs147692872
NM_020975.4(RET):c.1879+13C>T rs375573788
NM_020975.4(RET):c.1879+14G>A rs532810255
NM_020975.4(RET):c.1879+17C>T rs369920430
NM_020975.4(RET):c.1893C>T (p.Asp631=) rs55846256
NM_020975.4(RET):c.1897C>G (p.Leu633Val) rs267607010
NM_020975.4(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.4(RET):c.1915G>A (p.Ala639Thr) rs777122776
NM_020975.4(RET):c.1921G>A (p.Ala641Thr) rs377767411
NM_020975.4(RET):c.1946C>T (p.Ser649Leu) rs148935214
NM_020975.4(RET):c.2070C>T (p.Ser690=) rs201550433
NM_020975.4(RET):c.2110G>T (p.Val704Phe) rs927029236
NM_020975.4(RET):c.2136+15G>A rs751183869
NM_020975.4(RET):c.2225C>T (p.Thr742Met) rs773256580
NM_020975.4(RET):c.2226G>A (p.Thr742=) rs762876946
NM_020975.4(RET):c.225G>A (p.Thr75=) rs151267865
NM_020975.4(RET):c.2261C>T (p.Thr754Met) rs181856591
NM_020975.4(RET):c.2284+54C>A rs566375223
NM_020975.4(RET):c.2298G>A (p.Pro766=) rs140658743
NM_020975.4(RET):c.2304G>T (p.Glu768Asp) rs78014899
NM_020975.4(RET):c.2348A>C (p.Asn783Thr) rs587778656
NM_020975.4(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.4(RET):c.2393-14C>T rs144269978
NM_020975.4(RET):c.2393-9C>T rs567543719
NM_020975.4(RET):c.2409C>T (p.Ile803=) rs535051804
NM_020975.4(RET):c.2410G>A (p.Val804Met) rs79658334
NM_020975.4(RET):c.2449C>T (p.Arg817Cys) rs142318626
NM_020975.4(RET):c.2477A>C (p.Tyr826Ser) rs34617196
NM_020975.4(RET):c.2488G>A (p.Gly830Arg) rs200127630
NM_020975.4(RET):c.2497C>T (p.Arg833Cys) rs377767422
NM_020975.4(RET):c.2523G>A (p.Pro841=) rs56195026
NM_020975.4(RET):c.2530C>T (p.Arg844Trp) rs377767424
NM_020975.4(RET):c.2531G>T (p.Arg844Leu) rs55947360
NM_020975.4(RET):c.2556C>G (p.Ile852Met) rs377767426
NM_020975.4(RET):c.2607+4C>T rs200634990
NM_020975.4(RET):c.2607+5G>A rs143862573
NM_020975.4(RET):c.262A>G (p.Ile88Val) rs141679950
NM_020975.4(RET):c.2641C>G (p.Leu881Val) rs377767427
NM_020975.4(RET):c.2715C>T (p.Tyr905=) rs755023496
NM_020975.4(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.4(RET):c.2802-4G>T rs878855061
NM_020975.4(RET):c.2833G>A (p.Val945Met) rs587780811
NM_020975.4(RET):c.2875C>T (p.Arg959Trp) rs587778658
NM_020975.4(RET):c.2887C>A (p.Leu963Ile) rs864622603
NM_020975.4(RET):c.2939+6C>T rs181245759
NM_020975.4(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_020975.4(RET):c.2988G>A (p.Pro996=) rs145798106
NM_020975.4(RET):c.3040-11C>G rs1057517646
NM_020975.4(RET):c.3057G>A (p.Ala1019=) rs369579749
NM_020975.4(RET):c.308A>G (p.His103Arg) rs375390467
NM_020975.4(RET):c.3112A>G (p.Thr1038Ala) rs201740483
NM_020975.4(RET):c.3142C>G (p.Leu1048Val) rs774347808
NM_020975.4(RET):c.3182T>C (p.Leu1061Pro) rs536486113
NM_020975.4(RET):c.3185A>G (p.Tyr1062Cys) rs587778659
NM_020975.4(RET):c.334C>T (p.Arg112Cys) rs762626209
NM_020975.4(RET):c.335G>A (p.Arg112His) rs587780814
NM_020975.4(RET):c.337+12G>A rs200468424
NM_020975.4(RET):c.337+29G>A rs578158807
NM_020975.4(RET):c.337+34C>T rs368088467
NM_020975.4(RET):c.431G>A (p.Arg144His) rs551142665
NM_020975.4(RET):c.604G>A (p.Val202Met) rs751572082
NM_020975.4(RET):c.667G>A (p.Val223Met) rs587780815
NM_020975.4(RET):c.693C>T (p.Arg231=) rs576806329
NM_020975.4(RET):c.73+9278G>A rs537638504
NM_020975.4(RET):c.785T>C (p.Val262Ala) rs139790943
NM_020975.4(RET):c.832A>G (p.Thr278Ala) rs541929171
NM_020975.4(RET):c.835G>A (p.Ala279Thr) rs777221273
NM_020975.4(RET):c.867+48A>G rs2435352
NM_020975.4(RET):c.868-18G>A rs57098408
NM_020975.4(RET):c.938G>A (p.Arg313Gln) rs77702891
NM_020975.4(RET):c.972G>C (p.Trp324Cys) rs758298916
NM_020975.4(RET):c.977A>G (p.Gln326Arg) rs863224778
NM_020975.5(RET):c.*1969T>C rs3026785
NM_020975.5(RET):c.1016C>T (p.Ser339Leu) rs774829203
NM_020975.5(RET):c.1083C>A (p.Asn361Lys) rs770587835
NM_020975.5(RET):c.1267G>A (p.Gly423Arg) rs767601598
NM_020975.5(RET):c.1312G>A (p.Val438Ile) rs774474422
NM_020975.5(RET):c.134C>T (p.Ala45Val) rs763526874
NM_020975.5(RET):c.1441C>G (p.Leu481Val) rs767210575
NM_020975.5(RET):c.1642G>A (p.Gly548Ser) rs374461212
NM_020975.5(RET):c.1649-4G>A rs369769303
NM_020975.5(RET):c.1760-3C>T rs587781734
NM_020975.5(RET):c.1876C>A (p.Gln626Lys) rs1255575160
NM_020975.5(RET):c.1894G>A (p.Glu632Lys) rs377767407
NM_020975.5(RET):c.2116G>A (p.Val706Met) rs137855422
NM_020975.5(RET):c.2137-16del rs1409965349
NM_020975.5(RET):c.2285-4T>G rs376601566
NM_020975.5(RET):c.2371T>A (p.Tyr791Asn) rs377767417
NM_020975.5(RET):c.2392+19T>C rs778745375
NM_020975.5(RET):c.2531G>A (p.Arg844Gln) rs55947360
NM_020975.5(RET):c.2931C>G (p.Ser977Arg) rs375414982
NM_020975.5(RET):c.3176A>G (p.Asn1059Ser) rs772395752
NM_020975.5(RET):c.3188-2A>G rs1554820302
NM_020975.5(RET):c.3188-9C>T rs551159582
NM_020975.5(RET):c.3199C>T (p.Pro1067Ser) rs775583354
NM_020975.5(RET):c.3206G>C (p.Trp1069Ser) rs776615468
NM_020975.5(RET):c.3243T>C (p.Asp1081=) rs144192900
NM_020975.5(RET):c.3253A>G (p.Thr1085Ala) rs756465544
NM_020975.5(RET):c.3314C>T (p.Ala1105Val) rs532862288
NM_020975.5(RET):c.337+11C>T rs754967305
NM_020975.5(RET):c.406G>A (p.Glu136Lys) rs79014735
NM_020975.6(RET):c.1438G>A (p.Glu480Lys) rs537874538
NM_130799.2(MEN1):c.-20G>A rs386134244
NM_130799.2(MEN1):c.1098A>T (p.Glu366Asp) rs149383809
NM_130799.2(MEN1):c.1170G>A (p.Pro390=) rs587780841
NM_130799.2(MEN1):c.1294_1302del9 (p.Leu432_Val434del) rs1555164218
NM_130799.2(MEN1):c.1409C>T (p.Pro470Leu) rs750112288
NM_130799.2(MEN1):c.1535C>T (p.Ser512Leu) rs141679530
NM_130799.2(MEN1):c.30G>T (p.Leu10=) rs371192390
NM_130799.2(MEN1):c.339C>T (p.Ser113=) rs559635859
NM_130799.2(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_130799.2(MEN1):c.492C>T (p.Ala164=) rs146759807
NM_130799.2(MEN1):c.512G>A (p.Arg171Gln) rs607969
NM_130799.2(MEN1):c.652C>T (p.Arg218Trp) rs794728620
NM_130799.2(MEN1):c.655-4delT rs748005956
NM_130799.2(MEN1):c.784-15_784-14delTC rs764290037
NM_130799.2(MEN1):c.784-16C>T rs754257177
NM_130799.2(MEN1):c.913-42G>C rs529037188
NM_153818.1(PEX10):c.1012_1014delAAG (p.Lys338del) rs1553231582
NM_153818.1(PEX10):c.1037G>A (p.Arg346His) rs140890506
NM_153818.1(PEX10):c.1039T>C (p.Ter347Arg) rs779199089
NM_153818.1(PEX10):c.1041A>G (p.Ter347Trp) rs1358135448
NM_153818.1(PEX10):c.113-1G>A rs867305222
NM_153818.1(PEX10):c.1A>G (p.Met1Val) rs886041314
NM_153818.1(PEX10):c.20delG (p.Ser7Thrfs) rs1553232926
NM_153818.1(PEX10):c.211G>A (p.Glu71Lys) rs1291325133
NM_153818.1(PEX10):c.233A>G (p.Gln78Arg) rs766966222
NM_153818.1(PEX10):c.26delC (p.Pro9Argfs) rs1553232917
NM_153818.1(PEX10):c.275G>A (p.Arg92His) rs375649043
NM_153818.1(PEX10):c.2T>C (p.Met1Thr) rs724160002
NM_153818.1(PEX10):c.352C>T (p.Gln118Ter) rs369965266
NM_153818.1(PEX10):c.373C>T (p.Arg125Ter) rs61750434
NM_153818.1(PEX10):c.4delG (p.Ala2Profs) rs62636524
NM_153818.1(PEX10):c.600+1G>A rs267608183
NM_153818.1(PEX10):c.600+1delG rs1553232077
NM_153818.1(PEX10):c.623_624delTC (p.Leu208Glnfs) rs1553231896
NM_153818.1(PEX10):c.635_636delTGinsCTC (p.Met212Thrfs) rs1553231888
NM_153818.1(PEX10):c.637_638delAG (p.Ser213Cysfs) rs1553231875
NM_153818.1(PEX10):c.752_763del12 (p.Ser251_Arg346del) rs768893724
NM_153818.1(PEX10):c.764dupA (p.Leu256Alafs) rs61750435
NM_153818.1(PEX10):c.771C>T (p.Tyr257=) rs761005209
NM_153818.1(PEX10):c.790C>T (p.Arg264Ter) rs61752092
NM_153818.1(PEX10):c.815_816delAC (p.His272Profs) rs1325771720
NM_153818.1(PEX10):c.820G>A (p.Gly274Ser) rs761942658
NM_153818.1(PEX10):c.821delG (p.Gly274Alafs) rs1553231820
NM_153818.1(PEX10):c.836+2T>A rs1335685844
NM_153818.1(PEX10):c.836+2T>C rs1335685844
NM_153818.1(PEX10):c.850G>T (p.Glu284Ter) rs769251149
NM_153818.1(PEX10):c.855_856delAG (p.Arg285Serfs) rs1553231787
NM_153818.1(PEX10):c.874_875delCT (p.Leu292Valfs) rs61752093
NM_153818.1(PEX10):c.875delT (p.Leu292Argfs) rs1553231783
NM_153818.1(PEX10):c.887G>T (p.Cys296Phe) rs1414973726
NM_153818.1(PEX10):c.890T>C (p.Leu297Pro) rs724160000
NM_153818.1(PEX10):c.915_917dup (p.Thr306_Pro307insThr) rs1553231765
NM_153818.1(PEX10):c.928C>G (p.His310Asp) rs61752094
NM_153818.1(PEX10):c.939_941delCTG (p.Cys313del) rs1438047457
NM_153818.1(PEX10):c.972+1G>A rs1553231739
NM_153818.1(PEX10):c.972+1G>C rs1553231739
NM_153818.1(PEX10):c.973-2A>C rs758250423
NM_153818.1(PEX10):c.992G>A (p.Arg331Gln) rs724160001

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